Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.

Objective: Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on the phenotype and recurrence risk for families.

Care delivery and outcomes among Belgian children and adolescents with type 1 diabetes.

Unlabelled: We aimed to investigate care processes and outcomes among children and adolescents with type 1 diabetes treated in hospital-based multidisciplinary paediatric diabetes centres. Our retrospective cross-sectional study among 12 Belgian centres included data from 974 patients with type 1 diabetes, aged 0-18 years. Questionnaires were used to collect data on demographic and clinical characteristics, as well as process of care completion and outcomes of care in 2008.

Final height in children with idiopathic growth hormone deficiency treated with recombinant human growth hormone: the Belgian experience.

Background: The growth response to recombinant hGH (rhGH) treatment and final height of 61 Belgian children (32 boys) with idiopathic growth hormone deficiency (GHD) were studied.

Patients/methods: Two patient groups were compared: Group 1 with spontaneous puberty (n = 49), Group 2 with induced puberty (n = 12). The patients were treated with daily subcutaneous injections of rhGH in a dose of 0.

Longitudinal study of behavioral and affective patterns in girls with central precocious puberty during long-acting triptorelin therapy.

The aim of the present study was to evaluate the behavioral and affective characteristics and the changes in psychosocial functioning resulting from precocious puberty in 15 girls with central precocious puberty treated for 2 y using the GnRH agonist long-acting triptorelin, and in 5 untreated girls. After diagnosis of precocious puberty at 6.6-10.

Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?

Unlabelled: A child with the tentative diagnosis of Alagille syndrome is reported. Additional renal abnormalities are unilateral kidney agenesis and a kidney with subcortical cysts with decreased function. At the age of 5 years, insulin-dependent diabetes mellitus developed, with the pancreas being atrophic and negative pancreatic islet cell antibodies.

Influence of age, sex, and insulin on osteoblast function: osteoblast dysfunction in diabetes mellitus.

The osteoblast function was evaluated in normal and diabetic children and adults by measurements of the serum concentration of the carboxy-terminal extension peptide of procollagen (PICP), total and skeletal alkaline phosphatase (ALP), and osteocalcin. Moreover, the osteoblast-stimulating growth factor, insulin-like growth factor I (IGF-I), was measured in the same samples. In normal children (n = 420; age, 5-20 yr), a marked pubertal increase of serum IGF-I (peak values at age 14-16 yr in both sexes), osteocalcin, and total and skeletal ALP (peak values earlier in girls than in boys) and a small increase in PICP were observed.

Association of particular HLA class II alleles, haplotypes and genotypes with susceptibility to IDDM in the Belgian population.

Using a highly discriminatory DNA typing technique, based on the polymerase chain reaction and reverse dot blot hybridization, more refined results were obtained on the association of particular HLA class II alleles, haplotypes and genotypes with insulin-dependent diabetes mellitus in the Belgian population. The previously reported predisposing effect for the DRB1*0301 encoded DR3 serologic specificity was confirmed and could be assigned to the DRB3*0200 encoded DR52b serologic specificity. A second high risk haplotype, DRB1*0401-DQB1*0302 encoding the DR4-DQ8 serologic specificity, accounted for increased susceptibility both in the total insulin-dependent diabetic population and among DR4-positive patients.

Serum levels of growth hormone-binding protein and insulin-like growth factor I in children and adolescents with type 1 (insulin-dependent) diabetes mellitus.

Serum levels of insulin-like growth factor I are reduced in patients with Type 1 (insulin-dependent) diabetes mellitus. To evaluate the role of the hepatic growth hormone receptor in the decreased serum concentrations of insulin-like growth factor I, serum levels of the high affinity growth hormone-binding protein, which is qualitatively and quantitatively related to the hepatic growth hormone receptor, and of insulin-like growth factor I were measured in 70 children and adolescents with Type 1 diabetes and 105 healthy control children. Analysis of variance revealed a significant negative effect of Type 1 diabetes on serum levels of the growth hormone-binding protein and of insulin-like growth factor I.

Hyperthyroidism accelerates growth in Turner's syndrome.

Graves' disease in a girl with Turner's syndrome (karyotype 46,Xdel(Xp)) is described. Hyperthyroidism led to a pronounced acceleration of height velocity. During treatment with methimazole and L-thyroxine, height velocity normalized.

Growth hormone deficiency in a girl with the Cohen syndrome.

A girl with the Cohen syndrome and isolated growth hormone deficiency is described. Treatment with biosynthetic human growth hormone resulted in marked catch up growth to normal stature. It is concluded that growth hormone deficiency should be ruled out in patients with the Cohen syndrome and small stature.

Growth hormone deficiency: a hidden obstetrical trauma?

Fetal presentation, mode of delivery and onset of labour were reviewed in 177 patients with documented growth hormone deficiency. Non-cephalic presentations were about ten times more frequent in this group of patients than in a control population. All children with breech position were delivered vaginally and spontaneously, suggesting a pituitary insult during vaginal delivery.

Sensorineural hearing loss in sporadic congenital hypothyroidism.

Hearing acuity was assessed in 45 children with sporadic congenital hypothyroidism during adequate long-term treatment. Otoscopy was performed in each and additional tympanometry in some of them. Secretory otitis media was found in 6 and was treated medically or by inserting grommets in the eardrum.